Shruthi Mundasad,Anthony R Hart,Hannah K Robinson et al.
Shruthi Mundasad et al.
Objectives: To describe the clinical presentation and response to medication in two cases of self-limiting KCNQ2-related epilepsy. Case presentation: ...
Duplication of chromosome 1q32.1q44: presented with ventriculomegaly and transient myeloproliferative disorder of the newborn [0.03%]
染色体1q32.1q44复制伴室间隔增厚和新生儿短暂性骨髓增生性疾病
Medha Goyal,Malgorzata Joanna Nowaczyk,Vicky Breakey et al.
Medha Goyal et al.
Objectives: Partial trisomy of chromosome 1 has been reported following unbalanced translocations with partial monosomies of other chromosomes and rarely as a pure partial duplication. We aim to discuss partial trisomy 1q...
Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate [0.03%]
中线缺陷并胼胝体发育不全、小脑蚓部发育不良及中线型唇裂腭裂
Clara Illi,Josefine Theresia Koenigbauer,Alexander Weichert
Clara Illi
Objectives: Midline defects in the brain may be related to genetic syndromes. Association with facial anomalies and skeletal deformities has been described. ...
Appendicitis in pregnancy, higher rate of perforation compared to nonpregnant patients [0.03%]
妊娠期阑尾炎穿孔率高于非孕期患者
Mary Beth Janicki,Reinaldo Figueroa,Dorothy Wakefield et al.
Mary Beth Janicki et al.
Objectives: To compare clinical presentation and diagnostic evaluation to identify differences in treatment between pregnant and nonpregnant patients with appendicitis. ...
Congenital tuberculosis (TB) use of second-line medication and therapeutic drug monitoring [0.03%]
先天性结核病(second-line药物的使用及治疗药物监测)
Haram A Abdelmajid,Ghassan M A Mustafa,Antonia Fernandez et al.
Haram A Abdelmajid et al.
Objectives: Congenital tuberculosis (TB) is a rare complication of TB during pregnancy. Diagnosis and treatment are challenging, especially in premature infants due to limited data on drug dosing. ...
Aplasia cutis congenita as a complication of early interstitial laser embryo reduction in a case of monochorionic triamniotic triplet pregnancy ‒ a case report [0.03%]
早产胎内激光减胎术治疗单绒毛膜三羊膜囊三胎妊娠一例及伴发先天性皮肤缺损综合征报告
Anita Kaul,Chanchal Singh,Ila Gupta
Anita Kaul
Objectives: Monochorionic multiple pregnancies are being increasingly encountered. Early embryo reduction by interstitial laser is an option of therapeutic intervention. The patient counseling is mainly focused on miscarr...
Massive fetal goiter treated by intra-amniotic injection of levothyroxine: a case report [0.03%]
左甲状腺素羊膜腔内注射治疗胎儿巨大型甲状腺肿一例报告
Nami Tamura,Yuka Yamamoto,Jun Takeda et al.
Nami Tamura et al.
Objectives: Fetal dyshormonogenetic goiter is a rare condition associated with perinatal complications and sequelae in infants. Although prenatal management remains controversial, further evidence is required for optimal ...
Aromatase deficiency due to novel CYP19A1 mutation: a rare cause of maternal and fetal virilization [0.03%]
新型CYP19A1突变所致芳香化酶缺乏症——一种罕见的母亲和胎儿男性化的病因
Aamir Naseem,Muhammad Zahid,Kashan Arshad et al.
Aamir Naseem et al.
Objectives: Aromatase deficiency is a rare autosomal recessive condition due to a mutation in the CYP19A1 encoding aromatase enzyme. This enzyme protects the fetus and mother from excess androgens by converting them into ...
Case study: autoimmune hepatitis with cirrhosis and pancytopenia since 7 weeks' gestation [0.03%]
自身免疫性肝炎并发肝硬化和全血细胞减少的妊娠个案研究
Rachel Lee,Zenobia Gonsalves,Sophia Wang et al.
Rachel Lee et al.
Objectives: Autoimmune hepatitis (AIH) is a chronic inflammatory disease of unknown etiology and AIH in pregnancy is associated with many adverse maternal and fetal outcomes. The purpose of this report is to share insight...
Toshiyuki Hata,Aya Koyanagi,Riko Takayoshi et al.
Toshiyuki Hata et al.
Objectives: To detect fetal hyaloid artery (FHA) blood flow using SlowflowHD in the first trimester. Methods: During the 8-month period...